Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations
journal-article
Mutational analysis of the RB1 gene in Indian patients with retinoblastoma
journal-article
Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23
journal-article
Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy
journal-article
Genotype-Phenotype Correlation in 2 Indian Families With Severe Granular Corneal Dystrophy
journal-article
Genetics of corneal endothelial dystrophies
journal-article
Bilateral granular dystrophy: A clinicopathogenetic correlation after alcohol assisted debridement with phototherapeutic keratectomy
journal-article
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma
journal-article
TGFBI gene mutations in corneal dystrophies
journal-article
Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma
journal-article
Retinitis pigmentosa: genetics and gene-based approaches to therapy
journal-article
Reliability of nested polymerase chain reaction in the diagnosis of bacterial endophthalmitis
journal-article
Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1)
Stem Cell Research
journal-article
Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center
Indian Journal of Ophthalmology
journal-article
BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma
Ophthalmic Genetics
journal-article
Generation and characterization of a Stargardt's disease-specific induced pluripotent stem cell line (LVPEIi008-A) with a homozygous nonsense mutation in exon 44 of ABCA4
Stem Cell Research
journal-article
Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65
Stem Cell Research
journal-article
Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C > T) using non-integrative Sendai virus-based approach
Stem Cell Research
journal-article
Understanding Congenital Hereditary Endothelial Dystrophy pathogenesis using SLC4A11 knockout cellular model generated via CRISPRICas9 gene editing
Investigative Ophthalmology & Visual Science
journal-article
Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.
Stem Cell Research
journal-article
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India
Ophthalmic Genetics
journal-article
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
Ophthalmic Genetics
journal-article
Updates on congenital hereditary endothelial dystrophy
Taiwan Journal of Ophthalmology
journal-article
identification and in silico analysis of a spectrum of SLC4A11 variations in indian familial and sporadic cases of congenital hereditary endothelial dystrophy (vol 17, 361, 2022)
Orphanet Journal of Rare Diseases
journal-article
QUESTIONS OF METHOD: The Philosophy and Practice of Modern Human Genetics
Commentary: Decoding genetic retinal diseases research in India
Indian Journal of Ophthalmology
journal-article
Commentary: Decoding genetic retinal diseases research in India
Indian Journal of Ophthalmology
journal-article
Genes and Genetics in Ophthalmology
Genetics of Ocular Diseases
book-chapter
Genetics of Inherited Retinal Diseases in Understudied Populations
Frontiers in Genetics
journal-article
Genetics of Inherited Retinal Diseases in Understudied Populations
Frontiers in Genetics
journal-article
Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy
Orphanet Journal of Rare Diseases
journal-article
Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy
Orphanet Journal of Rare Diseases
journal-article
Update on the genetics of corneal endothelial dystrophies
Indian Journal of Ophthalmology
journal-article
Update on the genetics of corneal endothelial dystrophies
Indian Journal of Ophthalmology
journal-article
Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis
Frontiers in Medicine
journal-article
Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis
Frontiers in Medicine
journal-article
Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis.
Frontiers in medicine
journal-article
Genetic Markers for Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis in the Asian Indian Population: Implications on Prevention
Frontiers in Genetics
journal-article
Genetic Markers for Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis in the Asian Indian Population: Implications on Prevention
Frontiers in Genetics
journal-article
Macular Corneal Dystrophy: An Updated Review
Current Eye Research
journal-article
Macular Corneal Dystrophy: An Updated Review
Current Eye Research
journal-article
Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated with SLC4A11 Mutations in Affected Families
Cornea
journal-article
Review: Intraflagellar transport proteins in the retina
Molecular Vision
journal-article
The spermatogenesis-associated protein-7 (SPATA7) gene–an overview
Ophthalmic Genetics
journal-article
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.
Ophthalmic Genetics
journal-article
Genetic Markers for Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis in the Asian Indian Population: Implications on Prevention.
Frontiers in Genetics
journal-article
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview
Ophthalmic Genetics
journal-article
Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families
Cornea
journal-article
Coexistence of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy Associated With SLC4A11 Mutations in Affected Families.
Cornea
journal-article
Genetics of Eye Diseases An Overview
Genetics of Eye Diseases: An Overview
book
Genetics of Eye Diseases
[]
book
Leber Congenital Amaurosis in Asia
Recent Advances in Retinoblastoma Treatment
journal-article
Therapeutic avenues for hereditary forms of retinal blindness
Journal of Genetics
journal-article
A fluorescent quantitative multiplex pcr method to detect copy number changes in the RB1 gene
Methods in Molecular Biology
book-chapter
A Fluorescent Quantitative Multiplex PCR Method to Detect Copy Number Changes in the RB1 Gene
The Retinoblastoma Protein
other
A Fluorescent Quantitative Multiplex PCR Method to Detect Copy Number Changes in the RB1 Gene
Methods in Molecular Biology
journal-article
Therapeutic avenues for hereditary forms of retinal blindness
Journal of Genetics
journal-article
Therapeutic avenues for hereditary forms of retinal blindness
Journal of Genetics
journal-article
Genetics of Cataract in Asia: An Overview of Research in Congenital and Age-Related Cataract with Emphasis on Indian Populations
Recent Advances in Retinoblastoma Treatment
journal-article
Parents of Patients With Congenital Hereditary Endothelial Dystrophy Should Be Evaluated for Fuchs Endothelial Corneal Dystrophy
Cornea
journal-article
Association of Human Leukocyte Antigen Class 1 genes with Stevens Johnson Syndrome with severe ocular complications in an Indian population
Scientific Reports
journal-article
Association of Human Leukocyte Antigen Class 1 genes with Stevens Johnson Syndrome with severe ocular complications in an Indian population
Scientific Reports
journal-article
Genetics of Cataract in Asia: An Overview of Research in Congenital and Age-Related Cataract with Emphasis on Indian Populations
Advances in Vision Research, Volume I
other
Parents of Patients with Congenital Hereditary Endothelial Dystrophy Should Be Evaluated for Fuchs Endothelial Corneal Dystrophy
Cornea
journal-article
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration
Human molecular genetics
journal-article
Stevens-Johnson syndrome: The role of an ophthalmologist
Survey of Ophthalmology
journal-article
Stevens-Johnson syndrome: The role of an ophthalmologist
Survey of Ophthalmology
journal-article
Stevens-Johnson syndrome: The role of an ophthalmologist
Survey of Ophthalmology
journal-article
A missense mutation inASRGL1is involved in causing autosomal recessive retinal degeneration
Human Molecular Genetics
journal-article
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration
Human Molecular Genetics
journal-article
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration
Human Molecular Genetics
journal-article
Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells
Biochimica et Biophysica Acta - Molecular Basis of Disease
journal-article
Bilateral granular dystrophy: A clinicopathogenetic correlation after alcohol assisted debridement with phototherapeutic keratectomy
Medical Journal Armed Forces India
journal-article
IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement
Journal of Allergy and Clinical Immunology
journal-article
IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement
Journal of Allergy and Clinical Immunology
journal-article
Trans-ethnic study confirmed independent associations of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe ocular surface complications
Scientific Reports
journal-article
Trans-ethnic study confirmed independent associations of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe ocular surface complications
Scientific Reports
journal-article
Trans-ethnic study confirmed independent associations of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe ocular surface complications
Scientific Reports
journal-article
A cataract-causing connexin 50 mutant is mislocalized to the ER due to loss of the fourth transmembrane domain and cytoplasmic domain
FEBS Open Bio
journal-article
Mutational screening of Indian families with hereditary congenital cataract
Molecular Vision
journal-article
Mutational screening of Indian families with hereditary congenital cataract
Molecular Vision
journal-article
NMNAT1 mutations cause Leber congenital amaurosis
Nature Genetics
journal-article
Genetics of Leber congenital amaurosis: An update
Expert Review of Ophthalmology
journal-article
Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23
Human Genetics
journal-article
Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23
Human Genetics
journal-article
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa
Molecular Vision
journal-article
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa
Late occurrence of granular dystrophy in bilateral keratoconus: Penetrating keratoplasty and long-term follow-up
Indian Journal of Ophthalmology
journal-article
Late occurrence of granular dystrophy in bilateral keratoconus: Penetrating keratoplasty and long-term follow-up
Indian Journal of Ophthalmology
journal-article
Hypomethylation of the DNMT3L Promoter in Ocular Surface Squamous Neoplasia
Archives of Pathology and Laboratory Medicine
journal-article
Hypomethylation of the DNMT3L promoter in ocular surface squamous neoplasia
Archives of Pathology and Laboratory Medicine
journal-article
RB1 gene mutations in retinoblastoma and its clinical correlation
Saudi Journal of Ophthalmology
journal-article
RB1 gene mutations in retinoblastoma and its clinical correlation
Saudi Journal of Ophthalmology
journal-article
Genetics of corneal endothelial dystrophies
Journal of Genetics
journal-article
Genetics of eye diseases: Preface
Journal of Genetics
journal-article
Genetic analysis of indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
Investigative Ophthalmology and Visual Science
journal-article
Genetics of corneal endothelial dystrophies
Journal of Genetics
journal-article
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
BMJ Case Reports
journal-article
Lack of Association of High-Risk Human Papillomavirus in Ocular Surface Squamous Neoplasia in India
Archives of Pathology and Laboratory Medicine
journal-article
Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6
Molecular Vision
journal-article
Genetic Analysis of Indian Families with Autosomal Recessive Retinitis Pigmentosa by Homozygosity Screening
Investigative Ophthalmology & Visual Science
journal-article
Phenotypic Characterization of Retinoblastoma for the Presence of Putative Cancer Stem-like Cell Markers by Flow Cytometry
Investigative Ophthalmology & Visual Science
journal-article
Phenotypic characterization of retinoblastoma for the presence of putative cancer stem-like cell markers by flow cytometry
Investigative Ophthalmology and Visual Science
journal-article
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma
Journal of Genetics
journal-article
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma
Journal of Genetics
journal-article
Lack of association of high-risk human papillomavirus in ocular surface squamous neoplasia in India
Archives of Pathology and Laboratory Medicine
journal-article
Molecular and functional genetics of inherited eye disorders in India
Acta Ophthalmologica
journal-article
A missense mutation in LIM2 causes autosomal recessive congenital cataract
Molecular Vision
journal-article
Retinitis pigmentosa: Genetics and gene-based approaches to therapy
Expert Review of Ophthalmology
journal-article
Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy
Molecular Vision
journal-article
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
Journal of medical genetics
journal-article
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. (vol 44, pg 64, 2007)
Journal of Medical Genetics
journal-article
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11
Journal of Medical Genetics
journal-article
Gene Expression Signatures in Stem Cells - Lessons for Therapy
International Journal of Human Genetics
journal-article
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
Journal of Medical Genetics
journal-article
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
Journal of Medical Genetics
journal-article
Share, learn and get together: knowledge and information interactions at the XLV International Symposium of ISCEV - Hyderabad, India, 25-29 August 2007.
Documenta ophthalmologica. Advances in ophthalmology
journal-article
TGFBI gene mutations in corneal dystrophies
Human Mutation
journal-article
Genes, life and empire
Current Science
journal-article
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
American Journal of Human Genetics
journal-article
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
The American Journal of Human Genetics
journal-article
Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy
American Journal of Ophthalmology
journal-article
Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy
American Journal of Ophthalmology
journal-article
TGFBI gene mutations in coraeal dystrophies
Human Mutation
journal-article
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
Clinical Genetics
journal-article
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients
Investigative Ophthalmology & Visual Science
journal-article
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients
Investigative Ophthalmology and Visual Science
journal-article
Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy
Archives of Ophthalmology
journal-article
Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy
Archives of Ophthalmology
journal-article
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
Clinical Genetics
journal-article
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India
Molecular Vision
journal-article
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India
Molecular Vision
journal-article
Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.
Human mutation
journal-article
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India
Molecular Vision
journal-article
Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa
Journal of Genetics
journal-article
Mutational analysis of the RB1 gene in Indian patients with retinoblastoma
Ophthalmic Genetics
journal-article
Of genes and disease.
Indian Journal of Ophthalmology
journal-article
Reliability of nested polymerase chain reaction in the diagnosis of bacterial endophthalmitis
American Journal of Ophthalmology
journal-article
Reliability of nested polymerase chain reaction in the diagnosis of bacterial endophthalmitis
American Journal of Ophthalmology
journal-article
Reliability of nested polymerase chain reaction in the diagnosis of bacterial endophthalmitis
American Journal of Ophthalmology
journal-article
Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa
Journal of Genetics
journal-article
Molecular genetics of cataract
Indian Journal of Ophthalmology
journal-article
Dual action of the adenovirus E1A 243R oncoprotein on the human proliferating cell nuclear antigen promoter: repression of transcriptional activation by p53
Oncogene
journal-article
Dual action of the adenovirus E1A 243R oncoprotein on the human proliferating cell nuclear antigen promoter: Repression of transcriptional activation by p53
Oncogene
journal-article
Dual action of the adenovirus E1A 243R oncoprotein on the human proliferating cell nuclear antigen promoter: repression of transcriptional activation by p53
Oncogene
journal-article
Mutation of Beta A3/A1 crystallin gene in autosomal dominant zonular cataract with sutural opacities results in protein with single globular domain
Investigative Ophthalmology & Visual Science
journal-article
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
Molecular vision
journal-article
The mammalian transcriptional repressor REP (CBF1) regulates interleukin-6 gene expression
Molecular and Cellular Biology
journal-article
The mammalian transcriptional repressor RBP (CBF1) regulates interleukin-6 gene expression
Molecular and Cellular Biology
journal-article
STRUCTURE-FUNCTION ANALYSIS OF THE TBP-BINDING PROTEIN DR(1) REVEALS A MECHANISM FOR REPRESSION OF CLASS-II GENE-TRANSCRIPTION
Genes & Development
journal-article
Structure-function analysis of the TBP-binding protein Dr1 reveals a mechanism for repression of class II gene transcription
Genes and Development
journal-article
THE ADENOVIRUS-E1A 12S PRODUCT DISPLAYS FUNCTIONAL REDUNDANCY IN ACTIVATING THE HUMAN PROLIFERATING CELL NUCLEAR ANTIGEN PROMOTER